Varaico: Literature-Extracted Genetic Variants

Gene:CRAT
Variant:p.S282G

CRAT

2,591 papers

RefSeq Summary

This gene encodes carnitine O-acetyltransferase, a member of the carnitine acyltransferase family and a key metabolic pathway enzyme which plays an important role in energy homeostasis and fat metabol...

Pfam Domains

Carn_acyltransfaa 38–585UCSCCholine/Carnitine o-acyltransferase

Gene Aliases

HGNC Name

carnitine O-acetyltransferase

HGNC Alias Symbol

CAT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_000755.5
p.S282G
c.844A>G
Surrounding Variants
1 paper
NM_000755.5
p.S282R
c.844A>C
2 papers
NM_000755.5
p.S282T
c.845G>C
1 paper
NM_000755.5
p.S282N
c.845G>A
1 paper
NM_000755.5
p.K281R
c.842A>G
1 paper
NM_000755.5
p.K281E
c.841A>G
1 paper
NM_000755.5
p.I283S
c.848T>G
1 paper
NM_000755.5
p.I283T
c.848T>C
1 paper
NM_000755.5
p.Q280insFs
c.838_839insT
1 paper
NM_000755.5
p.F284Y
c.851T>A
1 paper
NM_000755.5
p.S278C
c.833C>G
1 paper
NM_000755.5
p.T285T
c.855C>A
1 paper
NM_000755.5
p.S278A
c.832T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."